Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2471116833', 'doi': None, 'title': '[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].', 'display_name': '[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].', 'publication_year': 2008, 'publication_date': '2008-12-01', 'ids': {'openalex': 'https://openalex.org/W2471116833', 'mag': '2471116833', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/19065523'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/19065523', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5100674102', 'display_name': 'Zhaohui Tang', 'orcid': 'https://orcid.org/0000-0002-2823-1009'}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zhao-hui Tang', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032341066', 'display_name': 'Yong Dai', 'orcid': 'https://orcid.org/0000-0002-6840-9158'}, 'institutions': [{'id': 'https://openalex.org/I4210105608', 'display_name': 'ShenZhen People’s Hospital', 'ror': 'https://ror.org/01hcefx46', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210105608']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Yong Dai', 'raw_affiliation_strings': ["Clinical Medical Research Center,Shenzhen People's Hospital,Shenzhen,Guangdong,518020 P.R.China"], 'affiliations': [{'raw_affiliation_string': "Clinical Medical Research Center,Shenzhen People's Hospital,Shenzhen,Guangdong,518020 P.R.China", 'institution_ids': ['https://openalex.org/I4210105608']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101695921', 'display_name': 'Zhihui Wan', 'orcid': 'https://orcid.org/0000-0003-1577-0393'}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Zhi-hui Wan', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5070014859', 'display_name': 'Tailan Zhan', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Tai-lan Zhan', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5017425865', 'display_name': 'Jin-wang Tan', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Jin-wang Tan', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101580484', 'display_name': 'Xiang Ren', 'orcid': 'https://orcid.org/0000-0002-1336-6613'}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Xiang Ren', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100424745', 'display_name': 'Jingyu Liu', 'orcid': 'https://orcid.org/0000-0001-9995-7870'}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Jing-yu Liu', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5100434816', 'display_name': 'Qing Wang', 'orcid': 'https://orcid.org/0000-0002-2235-6572'}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Qing Wang', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5077791585', 'display_name': 'Mu-gen Liu', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I47720641', 'display_name': 'Huazhong University of Science and Technology', 'ror': 'https://ror.org/00p991c53', 'country_code': 'CN', 'type': 'education', 'lineage': ['https://openalex.org/I47720641']}], 'countries': ['CN'], 'is_corresponding': False, 'raw_author_name': 'Mu-gen Liu', 'raw_affiliation_strings': ['Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China'], 'affiliations': [{'raw_affiliation_string': 'Key Laboratory of Molecular Biophysics of Ministry of Education,Center for Human Genome Research,College of Life Science and Technology,Huazhong University of Science and Technology,Wuhan,Hubei,430074 P.R.China', 'institution_ids': ['https://openalex.org/I47720641']}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': None, 'apc_paid': None, 'fwci': 0.0, 'has_fulltext': False, 'cited_by_count': 1, 'citation_normalized_percentile': {'value': 0.4319, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 63, 'max': 70}, 'biblio': {'volume': '25', 'issue': '6', 'first_page': '649', 'last_page': '52'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10831', 'display_name': 'Integrin Signaling in Inflammation and Cancer', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2723', 'display_name': 'Immunology and Allergy'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10831', 'display_name': 'Integrin Signaling in Inflammation and Cancer', 'score': 0.9993, 'subfield': {'id': 'https://openalex.org/subfields/2723', 'display_name': 'Immunology and Allergy'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11310', 'display_name': 'Genetic and Molecular Studies of Connective Tissue Disorders', 'score': 0.9902, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10604', 'display_name': 'Regulation of RNA Processing and Function', 'score': 0.9668, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/alport-syndrome', 'display_name': 'Alport syndrome', 'score': 0.8915688}, {'id': 'https://openalex.org/keywords/alternative-splicing', 'display_name': 'Alternative Splicing', 'score': 0.482489}, {'id': 'https://openalex.org/keywords/mutation-testing', 'display_name': 'Mutation testing', 'score': 0.4214316}], 'concepts': [{'id': 'https://openalex.org/C2776908417', 'wikidata': 'https://www.wikidata.org/wiki/Q1331116', 'display_name': 'Alport syndrome', 'level': 4, 'score': 0.8915688}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.78342104}, {'id': 'https://openalex.org/C36823959', 'wikidata': 'https://www.wikidata.org/wiki/Q373027', 'display_name': 'Exon', 'level': 3, 'score': 0.7186825}, {'id': 'https://openalex.org/C54458228', 'wikidata': 'https://www.wikidata.org/wiki/Q237218', 'display_name': 'RNA splicing', 'level': 4, 'score': 0.6532745}, {'id': 'https://openalex.org/C168007829', 'wikidata': 'https://www.wikidata.org/wiki/Q857299', 'display_name': 'Restriction fragment length polymorphism', 'level': 4, 'score': 0.59360486}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.580159}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.5565177}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.52238804}, {'id': 'https://openalex.org/C94671646', 'wikidata': 'https://www.wikidata.org/wiki/Q207551', 'display_name': 'Intron', 'level': 3, 'score': 0.51353717}, {'id': 'https://openalex.org/C163565370', 'wikidata': 'https://www.wikidata.org/wiki/Q4308623', 'display_name': 'Mutation testing', 'level': 4, 'score': 0.4214316}, {'id': 'https://openalex.org/C2780368995', 'wikidata': 'https://www.wikidata.org/wiki/Q605006', 'display_name': 'Glomerulonephritis', 'level': 3, 'score': 0.27606857}, {'id': 'https://openalex.org/C135763542', 'wikidata': 'https://www.wikidata.org/wiki/Q106016', 'display_name': 'Genotype', 'level': 3, 'score': 0.22709751}, {'id': 'https://openalex.org/C67705224', 'wikidata': 'https://www.wikidata.org/wiki/Q11053', 'display_name': 'RNA', 'level': 3, 'score': 0.0}, {'id': 'https://openalex.org/C2780091579', 'wikidata': 'https://www.wikidata.org/wiki/Q9377', 'display_name': 'Kidney', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D024141', 'descriptor_name': 'Collagen Type IV', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D009394', 'descriptor_name': 'Nephritis, Hereditary', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D012326', 'descriptor_name': 'RNA Splicing', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D044466', 'descriptor_name': 'Asians', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016022', 'descriptor_name': 'Case-Control Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D041321', 'descriptor_name': 'Chromosomes, Human, X', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D041321', 'descriptor_name': 'Chromosomes, Human, X', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D024141', 'descriptor_name': 'Collagen Type IV', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004252', 'descriptor_name': 'DNA Mutational Analysis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008040', 'descriptor_name': 'Genetic Linkage', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009394', 'descriptor_name': 'Nephritis, Hereditary', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010375', 'descriptor_name': 'Pedigree', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012150', 'descriptor_name': 'Polymorphism, Restriction Fragment Length', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012326', 'descriptor_name': 'RNA Splicing', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 1, 'locations': [{'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/19065523', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'score': 0.65, 'display_name': 'Good health and well-being'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 0, 'referenced_works': [], 'related_works': ['https://openalex.org/W3211650798', 'https://openalex.org/W3028856520', 'https://openalex.org/W2996259417', 'https://openalex.org/W2625709124', 'https://openalex.org/W2621138000', 'https://openalex.org/W2534826838', 'https://openalex.org/W2407679781', 'https://openalex.org/W2372412986', 'https://openalex.org/W2352575908', 'https://openalex.org/W2335932594', 'https://openalex.org/W2164085241', 'https://openalex.org/W2144716193', 'https://openalex.org/W2110924784', 'https://openalex.org/W2103579643', 'https://openalex.org/W2100968414', 'https://openalex.org/W2067510431', 'https://openalex.org/W2055242504', 'https://openalex.org/W1973197186', 'https://openalex.org/W1967091328', 'https://openalex.org/W1480781318'], 'abstract_inverted_index': {'To': [0], 'identify': [1], 'the': [2, 16, 19, 26, 34, 50, 56, 60, 74, 83, 94, 99, 113, 126], 'pathogenic': [3], 'mutation': [4, 57, 68, 91, 107, 130], 'in': [5, 58, 73, 79, 82, 92, 112, 119], 'a': [6, 104, 120], 'Chinese': [7, 121], 'family': [8, 61, 96], 'with': [9, 132], 'Alport': [10, 117, 133], 'syndrome.Blood': [11], 'samples': [12], 'were': [13], 'collected': [14], 'from': [15], 'members': [17, 62, 97], 'of': [18, 25, 33, 69, 108, 128], 'family.': [20, 84, 122], 'Direct': [21], 'DNA': [22], 'sequence': [23], 'analysis': [24, 45, 86], 'entire': [27], 'coding': [28], 'region': [29], 'and': [30, 39, 53, 63, 98], 'exon-intron': [31], 'boundaries': [32], 'COL4A5': [35, 75, 114, 129], 'gene': [36, 76, 115], 'was': [37, 46, 77], 'performed,': [38], 'restriction': [40], 'fragment': [41], 'length': [42], 'polymorphism': [43], '(RFLP)': [44], 'used': [47], 'to': [48, 54, 71, 110], 'confirm': [49], 'sequencing': [51], 'results': [52], 'test': [55], 'all': [59, 80, 93], '200': [64, 100], 'controls.A': [65], 'novel': [66, 105], 'splicing': [67, 106], 'c.1517-1G': [70, 109], 'T': [72, 111], 'identified': [78], 'patients': [81], 'RFLP': [85], 'did': [87], 'not': [88], 'detect': [89], 'this': [90], 'unaffected': [95], 'controls.This': [101], 'data': [102], 'revealed': [103], 'causing': [116], 'syndrome': [118], "Author's": [123], 'study': [124], 'enriched': [125], 'spectrum': [127], 'associated': [131], 'syndrome.': [134]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2471116833', 'counts_by_year': [{'year': 2013, 'cited_by_count': 1}], 'updated_date': '2024-09-18T18:49:10.465019', 'created_date': '2016-07-22'}